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oa Journal of Endocrinology, Metabolism and Diabetes in South Africa - Multiple endocrine neoplasia type 2A : case report

 

Abstract

Multiple endocrine neoplasia type 2A (MEN-2A) is an autosomal dominant genetic syndrome consisting of medullary thyroid carcinoma, phaeochromocytoma and hyperparathyroidism. A germline mutation in the RET proto-oncogene which codes for tyrosine kinase receptors expressed in neural-crest derived cells of the thyroid, the parathyroid, adrenal medulla and enteric autonomic plexus results in this syndrome. Genetic testing for mutations in the RET proto-oncogene should now be the standard of care for the diagnosis and screening of families with MEN-2A. This report describes a 34-year-old Congolese man with newly diagnosed MEN-2A.

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/content/m_jemdsa/13/1/EJC64159
2008-04-01
2016-12-05
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